rs149806989
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients.
|
19877282 |
2010 |
rs61750428
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
rs398123408
|
|
ATCCACACTG |
0.700 |
CausalMutation |
CLINVAR |
PEX1 mutations in complementation group 1 of Zellweger spectrum patients correlate with severity of disease.
|
12032265 |
2002 |
rs61750426
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
PEX1 mutations in complementation group 1 of Zellweger spectrum patients correlate with severity of disease.
|
12032265 |
2002 |
rs398123408
|
|
ATCCACACTG |
0.700 |
CausalMutation |
CLINVAR |
Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders.
|
9398847 |
1997 |
rs61750420
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders.
|
9398847 |
1997 |
rs61750420
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Low bone mineral density is a common feature of Zellweger spectrum disorders.
|
26643206 |
2016 |
rs149806989
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.
|
19105186 |
2009 |
rs1562857198
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.
|
19105186 |
2009 |
rs398123408
|
|
ATCCACACTG |
0.700 |
CausalMutation |
CLINVAR |
Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.
|
19105186 |
2009 |
rs61750428
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.
|
19105186 |
2009 |
rs61750415
|
|
TA |
0.700 |
CausalMutation |
CLINVAR |
Identification of a common PEX1 mutation in Zellweger syndrome.
|
10447258 |
1999 |
rs61750417
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.
|
21031596 |
2011 |
rs398123408
|
|
ATCCACACTG |
0.700 |
CausalMutation |
CLINVAR |
Characterization of two common 5' polymorphisms in PEX1 and correlation to survival in PEX1 peroxisome biogenesis disorder patients.
|
21846392 |
2011 |